Emery-Dreifuss Muscular Dystrophy

Symptoms

EDMD is usually diagnosable by age 10. EDMD is characterized by the wasting and weakness of the muscles that construct the shoulders, upper arms, and calf muscles, contractures (stiff joints) in Elbows, neck, and heels, as well as heart problems like conduction block (the electrical signals controlling the heartbeat do not communicate accordingly

between the heart’s upper and lower chambers, causing the heart’s rhythm to be upset) and abnormal heart rhythms (arrhythmias) are familiar features of EDMD and require monitoring, in addition to cardiac conduction abnormalities develop dilated cardiomyopathy. Female carriers for the X-linked EDMD can be at risk of cardiac problems; this risk may increase with age.

Treatment Options

Treatment Options

There is no specific treatment for EDMD; typically, treatment is directed at the specific symptoms which manifest in the individual. Contractures develop early and can worsen if the strength of the muscle does not change, it is difficult to prevent contractures, maintaining range of motion with physical therapy can slow the development of contractures; the surgical release of contractures is difficult due to their tendency to recur. Cardiac problems can be life-threatening and could require the insertion a peacemaker or medicine. Cardiac issues are easy to detect with an electrocardiogram; it is best for those with EDMD to be monitored regularly for the signs of cardiac conduction block and cardiomyopathy; cardiac conduction block is contracted by majority of those with EDMD by age 30. Cardiomyopathy is an impairment in the hearts muscle's ability to pump blood.

Statistics

Approximately 250,000 individuals in the United States are affected by some form of muscular dystrophy. An estimated 1 in 100,000 people are affected by Emery-Dreifuss muscular dystrophy. Males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be heterozygous. Heterozygous females are usually asymptomatic but are at risk of developing cardiac disease and possibly EDMD.

Statistics

Is it Curable?

No, EDMD cannot be cured, but the symptoms of EDMD can be managed to improve the quality of life.

Curable?

Reasearch Being Done

Reasearch Being

Done

Emery-Dreifuss muscular dystrophy (EDMD). These findings have improved medical diagnosis accuracy by enabling scientists to comprehend differences between various illness kinds. Now that this crucial first step is nearly finished, MDA is investigating options to address muscle issues brought on by the many gene abnormalities. Particularly active research areas include gene therapy, gene silencing, and cell therapy. At the same time, other MDA-funded scientists studied how to preserve muscle despite the presence of the degenerative disease; as of 2010, some scientists are focusing on retaining muscle by interfering with myostatin, a protein that naturally inhibits muscle growth. There is also research being conducted on medications to treat the specific heart problems associated with EDMD.

Helpful Prducts

Devices like pacemakers and cardioverter defibrillator implants make living with heart problems easier.

A pacemaker is a device implanted into the heart and regulates its rhythm.

A cardioverter defibrillator implant is an implanted device that activates to correct dangerous heart rhythm.

Helpful Products

How Was it Inherited?

EDMD is inherited through an X-linked recessive pattern. In males one mutation on the X-chromosome is enough to cause EDMD. In females the there must me a homozygous pair of altered X-chromosomes for them to cause EDMD; however, females who are carriers can sometimes still develope heart problems or mild muscle weakness realated to EDMD.

How Was it Inherited?

(Causes)

What type of mutation/disorder is this?

What type of mutation/disorter is this?

EDMD is usually sex-linked, inherited through the x-chromosome, it has a recessive pattern, it causes a gene mutation.

It was discovered that the genes that when defective lead to the different symptoms of EDMD; this gene is responsible for making a small protein called emerin, which is normally located in the membrane surrounding the nucleaus of a cell. It is not fully understood how this causes the x-linked EDMD, it is thought that the lack of emerin interferes with the reorganization of the nuclear membrane after the cell divides, causing weak or dying cells.

Parental Genotypes

To have a child with EDMD the mother could be a carrier or have EDMD and the father could could have EDMD or he could not have it at all. Depending on the sex of the child and which alleles the child inherits will determine if the child has EDMD.

Probability of Passing down (Punnett Square)

Probablity of passing down (Punnett Square)

There is a 50% chance that one of the offspring from these parents has EDMD.

Pedigree

= Carrier

Pedigree

When it Was Noticed

Recently I have noticed that my son, Tim, has had a hard time moving things that he should be able to at the age of 10, such as stools and chairs and he has little mobility in his neck and shoulders. So I decided to take him to the doctor to make sure everything was all right. The doctor ran some tests and later explained that Tim has Emey-Dreifuss muscular dystrophy and that there is no cure for it and all that can be done is treat the symptoms that come with it. He said that Tim would likely need a pacemaker, physical therapy, and surgeries to treat the symptoms of what he has.

When it was noticed

Changes we need to make

We must now make sure that we have Tim do physical therapy regularly to help prevent the loss of mobility and muscle and the development of contractures. We must take Tim to the doctor regularly to monitor his heart and check the progress of his physical therapy. We have consitered moving to a city where there is a hospital that is a MDA care center so that we do not have to drive to Colorado Springs everytime we need a specialist or someone who has a good understandin a of how to treat EMDM.

Medical Costs

It is looking like it will cost an estimated $10,000 for surgery for the constricters and around $96,000-$100,000 for the pacemaker.

Medical

Costs

The Impact on the Family

The Impact on the Family

My wife was originally distraught when she heard the news, but has since learned to make it a part of her regular day as have I. Tim's grandparents were troubled by the news and offered to help whenever we need.

How Will This Affect the Child?

How will this affect the Child

The doctor told me the Tims life expectancy will be determined off of the condition of his heart and how badly his condition damages it.

Tim is on medication for his heart, he is doing physical therapy, and we got him the pacemaker.

In some ways Tim's life will be normal, but it will always be different due to his condition.